NOC2L

NOC2L NOC2 like nucleolar associated transcriptional repressor

Annotation transcript: NM_015658.4

1170 unique variant annotations were identified in 944 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
1-880075-C-A c.2249G>T p.*750Lext*37 Missense 19/19 - 1
1-880079-C-A c.2245G>T p.D749Y Missense 19/19 - 1
1-880079-C-T c.2245G>A p.D749N Missense 19/19 - 2
1-880077-G-GTCGTCC c.2241_2246dup p.E747_D748dup InFrameInsertion 19/19 - 1
1-880080-G-A c.2244C>T p.D748= Synonymous 19/19 - 1
1-880082-C-T c.2242G>A p.D748N Missense 19/19 - 1
1-880080-GTCC-G c.2241_2243del p.E747del InFrameDeletion 19/19 - 1
1-880083-C-G c.2241G>C p.E747D Missense 19/19 - 1
1-880085-C-T c.2239G>A p.E747K Missense 19/19 - 1
1-880086-CTG-C c.2237_2238del p.S746* Frameshift 19/19 - 1
1-880086-T-C c.2238A>G p.S746= Synonymous 19/19 - 1
1-880087-G-C c.2237C>G p.S746* Nonsense 19/19 - 1
1-880087-G-T c.2237C>A p.S746* Nonsense 19/19 - 1
1-880090-A-C c.2234T>G p.L745R Missense 19/19 - 1
1-880091-G-A c.2233C>T p.L745F Missense 19/19 - 1
1-880092-C-T c.2232G>A p.Q744= Synonymous 19/19 - 1
1-880094-G-A c.2230C>T p.Q744* Nonsense 19/19 - 2
1-880094-G-T c.2230C>A p.Q744K Missense 19/19 - 1
1-880097-G-A c.2227C>T p.L743= Synonymous 19/19 - 1
1-880098-A-G c.2226T>C p.D742= Synonymous 19/19 - 1
1-880099-T-G c.2225A>C p.D742A Missense 19/19 - 1
1-880100-C-T c.2224G>A p.D742N Missense 19/19 - 2
1-880101-C-T c.2223G>A p.E741= Synonymous 19/19 - 1
1-880103-C-A c.2221G>T p.E741* Nonsense 19/19 - 1
1-880104-C-T c.2220G>A p.L740= Synonymous 19/19 - 1
1-880106-G-A c.2218C>T p.L740= Synonymous 19/19 - 1
1-880106-G-T c.2218C>A p.L740M Missense 19/19 - 1
1-880107-C-A c.2217G>T p.E739D Missense 19/19 - 1
1-880108-T-C c.2216A>G p.E739G Missense 19/19 - 1
1-880109-C-A c.2215G>T p.E739* Nonsense 19/19 - 1
1-880109-C-G c.2215G>C p.E739Q Missense 19/19 - 1
1-880109-C-T c.2215G>A p.E739K Missense 19/19 - 1
1-880109-TC-T c.2215del p.E739Sfs*20 Frameshift 19/19 - 1
1-880110-G-A c.2214C>T p.D738= Synonymous 19/19 - 3
1-880111-T-A c.2213A>T p.D738V Missense 19/19 - 1
1-880112-C-T c.2212G>A p.D738N Missense 19/19 - 1
1-880113-C-T c.2211G>A p.E737= Synonymous 19/19 - 1
1-880114-T-C c.2210A>G p.E737G Missense 19/19 - 1
1-880115-C-G c.2209G>C p.E737Q Missense 19/19 - 1
1-880115-C-T c.2209G>A p.E737K Missense 19/19 - 1
1-880116-C-T c.2208G>A p.P736= Synonymous 19/19 - 1
1-880117-G-A c.2207C>T p.P736L Missense 19/19 - 1
1-880117-G-C c.2207C>G p.P736R Missense 19/19 - 2
1-880119-C-G c.2205G>C p.G735= Synonymous 19/19 - 1
1-880119-C-T c.2205G>A p.G735= Synonymous 19/19 - 1
1-880120-C-G c.2204G>C p.G735A Missense 19/19 - 1
1-880121-C-T c.2203G>A p.G735R Missense 19/19 - 1
1-880122-C-G c.2202G>C p.Q734H Missense 19/19 - 1
1-880122-C-T c.2202G>A p.Q734= Synonymous 19/19 - 1
1-880123-T-G c.2201A>C p.Q734P Missense 19/19 - 1
1-880124-G-A c.2200C>T p.Q734* Nonsense 19/19 - 1
1-880124-G-T c.2200C>A p.Q734K Missense 19/19 - 1
1-880126-G-A c.2198C>T p.A733V Missense 19/19 - 1
1-880126-G-C c.2198C>G p.A733G Missense 19/19 - 1
1-880127-C-A c.2197G>T p.A733S Missense 19/19 - 1
1-880126-GC-G c.2197del p.A733Pfs*26 Frameshift 19/19 - 1
1-880128-C-T c.2196G>A p.L732= Synonymous 19/19 - 1
1-880129-A-C c.2195T>G p.L732R Missense 19/19 - 1
1-880130-G-C c.2194C>G p.L732V Missense 19/19 - 1
1-880131-C-T c.2193G>A p.Q731= Synonymous 19/19 - 1
1-880133-G-A c.2191C>T p.Q731* Nonsense 19/19 - 1
1-880134-C-T c.2190G>A p.Q730= Synonymous 19/19 - 1
1-880135-T-A c.2189A>T p.Q730L Missense 19/19 - 1
1-880136-G-T c.2188C>A p.Q730K Missense 19/19 - 1
1-880137-C-T c.2187G>A p.L729= Synonymous 19/19 - 2
1-880139-G-A c.2185C>T p.L729= Synonymous 19/19 - 1
1-880140-C-A c.2184G>T p.E728D Missense 19/19 - 1
1-880140-C-T c.2184G>A p.E728= Synonymous 19/19 - 1
1-880141-T-G c.2183A>C p.E728A Missense 19/19 - 1
1-880141-T-TG c.2182_2183insC p.E728Afs*49 Frameshift 19/19 - 1
1-880142-C-G c.2182G>C p.E728Q Missense 19/19 - 1
1-880145-C-A c.2179G>T p.G727W Missense 19/19 - 1
1-880146-A-C c.2178T>G p.P726= Synonymous 19/19 - 1
1-880147-G-A c.2177C>T p.P726L Missense 19/19 - 1
1-880150-G-A c.2174C>T p.A725V Missense 19/19 - 1
1-880150-G-C c.2174C>G p.A725G Missense 19/19 - 1
1-880152-C-A c.2172G>T p.L724= Synonymous 19/19 - 1
1-880153-A-G c.2171T>C p.L724P Missense 19/19 - 1
1-880155-C-A c.2169G>T p.G723= Synonymous 19/19 - 2
1-880155-C-T c.2169G>A p.G723= Synonymous 19/19 - 2
1-880156-C-T c.2168G>A p.G723E Missense 19/19 - 1
1-880158-C-A c.2166G>T p.A722= Synonymous 19/19 - 1
1-880158-C-T c.2166G>A p.A722= Synonymous 19/19 - 1
1-880159-G-A c.2165C>T p.A722V Missense 19/19 - 1
1-880159-G-C c.2165C>G p.A722G Missense 19/19 - 1
1-880160-C-T c.2164G>A p.A722T Missense 19/19 - 1
1-880161-C-G c.2163G>C p.E721D Missense 19/19 - 1
1-880162-T-C c.2162A>G p.E721G Missense 19/19 - 1
1-880163-C-A c.2161G>T p.E721* Nonsense 19/19 - 2
1-880164-T-C c.2160A>G p.A720= Synonymous 19/19 - 1
1-880164-TG-GT c.2159_2160delinsAC p.A720D Missense 19/19 - 1
1-880165-G-A c.2159C>T p.A720V Missense 19/19 - 1
1-880166-C-T c.2158G>A p.A720T Missense 19/19 - 1
1-880167-G-A c.2157C>T p.D719= Synonymous 19/19 - 1
1-880167-G-T c.2157C>A p.D719E Missense 19/19 - 1
1-880168-T-A c.2156A>T p.D719V Missense 19/19 - 1
1-880169-C-G c.2155G>C p.D719H Missense 19/19 - 1
1-880170-T-A c.2154A>T p.P718= Synonymous 19/19 - 1
1-880171-G-C c.2153C>G p.P718R Missense 19/19 - 1
1-880172-G-A c.2152C>T p.P718S Missense 19/19 - 1
1-880174-T-G c.2150A>C p.D717A Missense 19/19 - 1
1-880175-C-A c.2149G>T p.D717Y Missense 19/19 - 1
1-880175-C-T c.2149G>A p.D717N Missense 19/19 - 1
1-880176-T-TC c.2147dup p.D717Rfs*60 SpliceAcceptorInsertion 19/19 - 1
1-880178-C-G c.2146G>C p.G716R Missense 19/19 - 1
1-880178-C-T c.2146G>A p.G716R Missense 19/19 - 1
1-880179-A-G c.2145T>C p.D715= Synonymous 19/19 - 1
1-880180-T-G c.2144A>C p.D715A Missense 19/19 - 1
1-880187-G-A c.2144-7C>T - IntronicSNV - 18/18 1
1-880238-A-G c.2144-58T>C - IntronicSNV - 18/18 8
1-880390-C-A c.2143+47G>T - IntronicSNV - 18/18 2
1-880390-C-T c.2143+47G>A - IntronicSNV - 18/18 1
1-880437-CC-TG c.2142_2143delinsCA p.E714_D715delinsDN SpliceDonorBlockSubstitution 18/19 - 1
1-880437-C-T c.2143G>A p.D715N Missense 18/19 - 2
1-880438-C-T c.2142G>A p.E714= Synonymous 18/19 - 2
1-880441-CG-AA c.2138_2139delinsTT p.S713F Missense 18/19 - 1
1-880441-CGA-GTT c.2137_2139delinsAAC p.S713N Missense 18/19 - 1
1-880441-C-T c.2139G>A p.S713= Synonymous 18/19 - 1
1-880442-G-A c.2138C>T p.S713L Missense 18/19 - 1
1-880442-G-C c.2138C>G p.S713W Missense 18/19 - 1
1-880442-G-T c.2138C>A p.S713* Nonsense 18/19 - 1
1-880443-A-G c.2137T>C p.S713P Missense 18/19 - 2
1-880443-A-T c.2137T>A p.S713T Missense 18/19 - 1
1-880447-G-A c.2133C>T p.S711= Synonymous 18/19 - 1
1-880448-C-T c.2132G>A p.S711N Missense 18/19 - 1
1-880449-T-C c.2131A>G p.S711G Missense 18/19 - 1
1-880450-G-A c.2130C>T p.S710= Synonymous 18/19 - 1
1-880445-TTGC-T c.2132_2134del p.S711del InFrameDeletion 18/19 - 1
1-880451-C-T c.2129G>A p.S710N Missense 18/19 - 1
1-880452-T-C c.2128A>G p.S710G Missense 18/19 - 1
1-880453-G-C c.2127C>G p.D709E Missense 18/19 - 1
1-880453-G-T c.2127C>A p.D709E Missense 18/19 - 2
1-880454-T-C c.2126A>G p.D709G Missense 18/19 - 2
1-880455-C-T c.2125G>A p.D709N Missense 18/19 - 1
1-880456-C-A c.2124G>T p.E708D Missense 18/19 - 1
1-880456-C-G c.2124G>C p.E708D Missense 18/19 - 1
1-880453-GTCC-G c.2124_2126del p.E708del InFrameDeletion 18/19 - 1
1-880459-C-T c.2121G>A p.E707= Synonymous 18/19 - 1
1-880461-C-T c.2119G>A p.E707K Missense 18/19 - 2
1-880454-TCCTCCTCGC-T c.2117_2125del p.G706_E708del InFrameDeletion 18/19 - 1
1-880462-G-A c.2118C>T p.G706= Synonymous 18/19 - 1
1-880453-GTCCTCCTCGCCC-G c.2115_2126del p.E705_E708del InFrameDeletion 18/19 - 2
1-880464-C-T c.2116G>A p.G706S Missense 18/19 - 3
1-880465-C-G c.2115G>C p.E705D Missense 18/19 - 1
1-880465-C-T c.2115G>A p.E705= Synonymous 18/19 - 1
1-880466-T-C c.2114A>G p.E705G Missense 18/19 - 1
1-880463-CCCTCCTCCTCGT-C c.2105_2116del p.D702_E705del InFrameDeletion 18/19 - 2
1-880468-C-A c.2112G>T p.E704D Missense 18/19 - 4
1-880468-C-G c.2112G>C p.E704D Missense 18/19 - 2
1-880468-C-T c.2112G>A p.E704= Synonymous 18/19 - 1
1-880470-C-G c.2110G>C p.E704Q Missense 18/19 - 1
1-880470-C-T c.2110G>A p.E704K Missense 18/19 - 1
1-880463-CCCT-C c.2114_2116del p.E705del InFrameDeletion 18/19 - 1
1-880468-CTCCTCGTCCTCT-C c.2100_2111del p.D702_E705del InFrameDeletion 18/19 - 1
1-880471-C-A c.2109G>T p.E703D Missense 18/19 - 1
1-880471-C-G c.2109G>C p.E703D Missense 18/19 - 1
1-880473-C-A c.2107G>T p.E703* Nonsense 18/19 - 1
1-880473-C-G c.2107G>C p.E703Q Missense 18/19 - 1
1-880473-C-T c.2107G>A p.E703K Missense 18/19 - 1
1-880468-CTCCTCG-C c.2106_2111del p.D702_E703del InFrameDeletion 18/19 - 1
1-880474-G-A c.2106C>T p.D702= Synonymous 18/19 - 2
1-880474-G-C c.2106C>G p.D702E Missense 18/19 - 1
1-880475-T-A c.2105A>T p.D702V Missense 18/19 - 1
1-880475-T-C c.2105A>G p.D702G Missense 18/19 - 1
1-880476-C-T c.2104G>A p.D702N Missense 18/19 - 2
1-880477-C-T c.2103G>A p.E701= Synonymous 18/19 - 1
1-880479-C-T c.2101G>A p.E701K Missense 18/19 - 1
1-880477-CTCT-C c.2100_2102del p.E701del InFrameDeletion 18/19 - 1
1-880477-CTCTTCATCGTCT-C c.2091_2102del p.D699_D702del InFrameDeletion 18/19 - 1
1-880480-T-C c.2100A>G p.E700= Synonymous 18/19 - 1
1-880480-T-G c.2100A>C p.E700D Missense 18/19 - 1
1-880481-880482---CATCGTCTTCCA c.2087_2098dup p.V696_D699dup inframe_insertion 18/19 - 1
1-880482-C-G c.2098G>C p.E700Q Missense 18/19 - 1
1-880477-CTCTTCATCG-C c.2094_2102del p.D698_E700del InFrameDeletion 18/19 - 1
1-880480-TTCA-T c.2097_2099del p.D699del InFrameDeletion 18/19 - 1
1-880483-A-G c.2097T>C p.D699= Synonymous 18/19 - 2
1-880484-T-C c.2096A>G p.D699G Missense 18/19 - 1
1-880485-C-T c.2095G>A p.D699N Missense 18/19 - 4
1-880486-G-A c.2094C>T p.D698= Synonymous 18/19 - 2
1-880491-C-T c.2089G>A p.E697K Missense 18/19 - 1
1-880500-G-A c.2080C>T p.H694Y Missense 18/19 - 1
1-880500-G-C c.2080C>G p.H694D Missense 18/19 - 2
1-880502-C-T c.2078G>A p.R693Q Missense 18/19 - 1
1-880503-G-A c.2077C>T p.R693W Missense 18/19 - 2
1-880507-G-A c.2073C>T p.S691= Synonymous 18/19 - 1
1-880508-C-T c.2072G>A p.S691N Missense 18/19 - 1
1-880510-CAG-GTC c.2068_2070delinsGAC p.L690D Missense 18/19 - 2
1-880525-C-A c.2055G>T p.G685= Synonymous 18/19 - 1
1-880899-TCT-CCA c.2050_2052delinsTGG p.R684W Missense 17/19 - 1
1-880905-C-A c.2046G>T p.S682= Synonymous 17/19 - 2
1-880905-C-T c.2046G>A p.S682= Synonymous 17/19 - 1
1-880906-G-A c.2045C>T p.S682L Missense 17/19 - 1
1-880906-G-C c.2045C>G p.S682W Missense 17/19 - 3
1-880908-G-C c.2043C>G p.F681L Missense 17/19 - 1
1-880909-A-G c.2042T>C p.F681S Missense 17/19 - 1
1-880914-C-T c.2037G>A p.E679= Synonymous 17/19 - 1
1-880924-T-C c.2027A>G p.D676G Missense 17/19 - 1
1-880924-T-G c.2027A>C p.D676A Missense 17/19 - 1
1-880925-C-A c.2026G>T p.D676Y Missense 17/19 - 3
1-880925-C-T c.2026G>A p.D676N Missense 17/19 - 3
1-880930-T-G c.2021A>C p.E674A Missense 17/19 - 1
1-880931-C-A c.2020G>T p.E674* Nonsense 17/19 - 1
1-880931-C-T c.2020G>A p.E674K Missense 17/19 - 1
1-880932-A-C c.2019T>G p.S673= Synonymous 17/19 - 1
1-880932-A-G c.2019T>C p.S673= Synonymous 17/19 - 1
1-880932-A-T c.2019T>A p.S673= Synonymous 17/19 - 1
1-880934-A-C c.2017T>G p.S673A Missense 17/19 - 1
1-880942-A-G c.2009T>C p.L670P Missense 17/19 - 2
1-880944-G-A c.2007C>T p.D669= Synonymous 17/19 - 1
1-880946-C-T c.2005G>A p.D669N Missense 17/19 - 1
1-880948-A-G c.2003T>C p.F668S Missense 17/19 - 1
1-880950-G-A c.2001C>T p.L667= Synonymous 17/19 - 5
1-880950-G-C c.2001C>G p.L667= Synonymous 17/19 - 2
1-880950-G-T c.2001C>A p.L667= Synonymous 17/19 - 3
1-880955-C-T c.1996G>A p.D666N Missense 17/19 - 1
1-880957-T-A c.1994A>T p.K665I Missense 17/19 - 1
1-880960-A-T c.1991T>A p.F664Y Missense 17/19 - 1
1-880964-G-C c.1987C>G p.Q663E Missense 17/19 - 1
1-880965-C-T c.1986G>A p.K662= Synonymous 17/19 - 2
1-880968-CCT-ATG c.1981_1983delinsCAT p.R661H Missense 17/19 - 1
1-880968-C-T c.1983G>A p.R661= Synonymous 17/19 - 2
1-880970-T-G c.1981A>C p.R661= Synonymous 17/19 - 1
1-880969-CT-GC c.1981_1982delinsGC p.R661A Missense 17/19 - 1
1-880969-CT-TG c.1981_1982delinsCA p.R661Q Missense 17/19 - 1
1-880971-G-A c.1980C>T p.D660= Synonymous 17/19 - 1
1-880975-T-G c.1976A>C p.E659A Missense 17/19 - 1
1-880977-A-C c.1974T>G p.D658E Missense 17/19 - 1
1-880994-T-C c.1957A>G p.M653V Missense 17/19 - 1
1-880999-C-T c.1952G>A p.R651K Missense 17/19 - 1
1-881002-CG-GC c.1948_1949delinsGC p.R650A Missense 17/19 - 1
1-881002-C-T c.1949G>A p.R650Q Missense 17/19 - 1
1-881003-G-A c.1948C>T p.R650* Nonsense 17/19 - 2
1-881004-T-A c.1947A>T p.K649N Missense 17/19 - 1
1-881014-G-A c.1937C>T p.P646L Missense 17/19 - 2
1-881015-G-A c.1936C>T p.P646S Missense 17/19 - 2
1-881026-T-C c.1925A>G p.D642G Missense 17/19 - 1
1-881377-G-A c.1917+176C>T - IntronicSNV - 16/18 1
1-881377-G-C c.1917+176C>G - IntronicSNV - 16/18 1
1-881512-G-A c.1917+41C>T - IntronicSNV - 16/18 1
1-881512-G-T c.1917+41C>A - IntronicSNV - 16/18 1
1-881544-G-A c.1917+9C>T - IntronicSNV - 16/18 1
1-881554-C-T c.1916G>A p.R639Q Missense 16/19 - 2
1-881555-G-A c.1915C>T p.R639W Missense 16/19 - 1
1-881561-T-C c.1909A>G p.K637E Missense 16/19 - 1
1-881571-C-A c.1899G>T p.E633D Missense 16/19 - 1
1-881571-C-G c.1899G>C p.E633D Missense 16/19 - 1
1-881579-G-A c.1891C>T p.Q631* Nonsense 16/19 - 2
1-881582-T-C c.1888A>G p.I630V Missense 16/19 - 1
1-881586-C-A c.1884G>T p.R628= Synonymous 16/19 - 1
1-881587-C-T c.1883G>A p.R628Q Missense 16/19 - 1
1-881588-G-A c.1882C>T p.R628W Missense 16/19 - 1
1-881589-G-C c.1881C>G p.D627E Missense 16/19 - 2
1-881589-G-T c.1881C>A p.D627E Missense 16/19 - 2
1-881592-ACG-CCA c.1876_1878delinsTGG p.R626W Missense 16/19 - 1
1-881593-C-T c.1877G>A p.R626H Missense 16/19 - 2
1-881594-G-A c.1876C>T p.R626C Missense 16/19 - 1
1-881595-C-T c.1875G>A p.L625= Synonymous 16/19 - 1
1-881602-C-T c.1868G>A p.R623H Missense 16/19 - 1
1-881603-G-C c.1867C>G p.R623G Missense 16/19 - 1
1-881606-A-G c.1864T>C p.W622R Missense 16/19 - 1
1-881606-A-T c.1864T>A p.W622R Missense 16/19 - 1
1-881625-C-A c.1845G>T p.L615= Synonymous 16/19 - 1
1-881625-C-G c.1845G>C p.L615= Synonymous 16/19 - 1
1-881625-C-T c.1845G>A p.L615= Synonymous 16/19 - 1
1-881627-G-A c.1843C>T p.L615= Synonymous 16/19 - 21
1-881629-G-A c.1841C>T p.P614L Missense 16/19 - 1
1-881635-C-T c.1835G>A p.G612E Missense 16/19 - 1
1-881638-T-C c.1832A>G p.E611G Missense 16/19 - 1
1-881643-C-T c.1827G>A p.R609= Synonymous 16/19 - 1
1-881645-G-A c.1825C>T p.R609W Missense 16/19 - 1
1-881769-A-G c.1803+13T>C - IntronicSNV - 15/18 1
1-881784-C-T c.1801G>A p.V601M Missense 15/19 - 3
1-881785-T-A c.1800A>T p.A600= Synonymous 15/19 - 1
1-881787-C-T c.1798G>A p.A600T Missense 15/19 - 2
1-881788-C-T c.1797G>A p.Q599= Synonymous 15/19 - 2
1-881795-T-C c.1790A>G p.E597G Missense 15/19 - 1
1-881799-A-T c.1786T>A p.S596T Missense 15/19 - 1
1-881800-G-A c.1785C>T p.V595= Synonymous 15/19 - 1
1-881800-G-C c.1785C>G p.V595= Synonymous 15/19 - 1
1-881800-G-T c.1785C>A p.V595= Synonymous 15/19 - 1
1-881801-A-G c.1784T>C p.V595A Missense 15/19 - 1
1-881802-C-T c.1783G>A p.V595I Missense 15/19 - 4
1-881806-G-A c.1779C>T p.F593= Synonymous 15/19 - 3
1-881810-G-A c.1775C>T p.S592F Missense 15/19 - 5
1-881821-G-A c.1764C>T p.R588= Synonymous 15/19 - 2
1-881821-G-C c.1764C>G p.R588= Synonymous 15/19 - 1
1-881821-G-T c.1764C>A p.R588= Synonymous 15/19 - 1
1-881822-C-T c.1763G>A p.R588H Missense 15/19 - 1
1-881825-CG-GC c.1759_1760delinsGC p.R587A Missense 15/19 - 1
1-881826-G-C c.1759C>G p.R587G Missense 15/19 - 1
1-881827-G-C c.1758C>G p.S586R Missense 15/19 - 1
1-881831-C-T c.1754G>A p.C585Y Missense 15/19 - 2
1-881833-G-C c.1752C>G p.I584M Missense 15/19 - 1
1-881842-C-A c.1743G>T p.S581= Synonymous 15/19 - 1
1-881842-C-G c.1743G>C p.S581= Synonymous 15/19 - 1
1-881842-C-T c.1743G>A p.S581= Synonymous 15/19 - 2
1-881850-C-G c.1735G>C p.E579Q Missense 15/19 - 2
1-881855-A-C c.1730T>G p.V577G Missense 15/19 - 1
1-881857-C-T c.1728G>A p.K576= Synonymous 15/19 - 1
1-881860-C-T c.1725G>A p.G575= Synonymous 15/19 - 1
1-881861-C-G c.1724G>C p.G575A Missense 15/19 - 1
1-881867-A-T c.1718T>A p.L573Q Missense 15/19 - 1
1-881873-T-G c.1712A>C p.Q571P Missense 15/19 - 1
1-881875-C-A c.1710G>T p.V570= Synonymous 15/19 - 2
1-881883-G-A c.1702C>T p.R568W Missense 15/19 - 1
1-881884-G-A c.1701C>T p.C567= Synonymous 15/19 - 1
1-881885-C-T c.1700G>A p.C567Y Missense 15/19 - 2
1-881892-T-G c.1693A>C p.N565H Missense 15/19 - 7
1-881894-G-A c.1691C>T p.A564V Missense 15/19 - 1
1-881899-CT-GC c.1685_1686delinsGC p.K562S Missense 15/19 - 6
1-881900-T-C c.1685A>G p.K562R Missense 15/19 - 9
1-881900-T-G c.1685A>C p.K562T Missense 15/19 - 1
1-881902-G-A c.1683C>T p.C561= Synonymous 15/19 - 1
1-881907-C-T c.1678G>A p.E560K Missense 15/19 - 1
1-881909-C-T c.1676G>A p.R559Q Missense 15/19 - 3
1-881910-G-A c.1675C>T p.R559W Missense 15/19 - 1
1-881916-A-C c.1669T>G p.F557V Missense 15/19 - 1
1-881917-C-A c.1668G>T p.S556= Synonymous 15/19 - 1
1-881917-C-G c.1668G>C p.S556= Synonymous 15/19 - 1
1-881917-C-T c.1668G>A p.S556= Synonymous 15/19 - 1
1-881918-G-A c.1667C>T p.S556L Missense 15/19 - 13
1-881918-G-C c.1667C>G p.S556W Missense 15/19 - 3
1-881920-C-T c.1665G>A p.K555= Synonymous 15/19 - 1
1-882109-C-G c.1660-184G>C - IntronicSNV - 14/18 1
1-882250-C-A c.1660-325G>T - IntronicSNV - 14/18 1
1-882663-G-A c.1660-738C>T - IntronicSNV - 14/18 1
1-883491-G-A c.1659+20C>T - IntronicSNV - 14/18 1
1-883491-G-C c.1659+20C>G - IntronicSNV - 14/18 1
1-883513-G-A c.1657C>T p.Q553* Nonsense 14/19 - 1
1-883516-G-A c.1654C>T p.L552= Synonymous 14/19 - 5
1-883519-C-T c.1651G>A p.V551I Missense 14/19 - 1
1-883521-A-G c.1649T>C p.V550A Missense 14/19 - 1
1-883537-C-G c.1633G>C p.E545Q Missense 14/19 - 1
1-883537-C-T c.1633G>A p.E545K Missense 14/19 - 1
1-883539-G-A c.1631C>T p.P544L Missense 14/19 - 1
1-883540-G-A c.1630C>T p.P544S Missense 14/19 - 1
1-883541-G-C c.1629C>G p.F543L Missense 14/19 - 1
1-883541-G-T c.1629C>A p.F543L Missense 14/19 - 1
1-883543-A-G c.1627T>C p.F543L Missense 14/19 - 1
1-883547-G-A c.1623C>T p.I541= Synonymous 14/19 - 1
1-883547-G-T c.1623C>A p.I541= Synonymous 14/19 - 1
1-883550-G-A c.1620C>T p.C540= Synonymous 14/19 - 1
1-883558-C-T c.1612G>A p.A538T Missense 14/19 - 1
1-883563-C-T c.1607G>A p.S536N Missense 14/19 - 4
1-883564-T-C c.1606A>G p.S536G Missense 14/19 - 1
1-883570-G-A c.1600C>T p.L534= Synonymous 14/19 - 3
1-883590-T-C c.1580A>G p.Y527C Missense 14/19 - 1
1-883608-C-G c.1562G>C p.G521A Missense 14/19 - 1
1-883610-G-A c.1560C>T p.D520= Synonymous 14/19 - 1
1-883611-T-A c.1559A>T p.D520V Missense 14/19 - 1
1-883612-C-T c.1558G>A p.D520N Missense 14/19 - 2
1-883625-A-G c.1558-13T>C - IntronicSNV - 13/18 9
1-883699-C-T c.1558-87G>A - IntronicSNV - 13/18 1
1-883871-CG-TT c.1555_1556delinsAA p.R519K Missense 13/19 - 1
1-883871-C-T c.1556G>A p.R519Q Missense 13/19 - 3
1-883872-G-A c.1555C>T p.R519W Missense 13/19 - 1
1-883877-G-A c.1550C>T p.A517V Missense 13/19 - 1
1-883883-T-C c.1544A>G p.E515G Missense 13/19 - 1
1-883892-T-A c.1535A>T p.N512I Missense 13/19 - 1
1-883892-T-G c.1535A>C p.N512T Missense 13/19 - 1
1-883893-T-G c.1534A>C p.N512H Missense 13/19 - 2
1-883895-A-G c.1532T>C p.V511A Missense 13/19 - 1
1-883899-T-C c.1528A>G p.N510D Missense 13/19 - 2
1-883899-T-G c.1528A>C p.N510H Missense 13/19 - 1
1-883901-GA-CC c.1525_1526delinsGG p.S509G Missense 13/19 - 1
1-883903-C-A c.1524G>T p.L508= Synonymous 13/19 - 1
1-883903-C-G c.1524G>C p.L508= Synonymous 13/19 - 1
1-883903-C-T c.1524G>A p.L508= Synonymous 13/19 - 1
1-883905-G-A c.1522C>T p.L508= Synonymous 13/19 - 1
1-883918-G-A c.1509C>T p.S503= Synonymous 13/19 - 2
1-883918-G-C c.1509C>G p.S503= Synonymous 13/19 - 2
1-883918-G-T c.1509C>A p.S503= Synonymous 13/19 - 2
1-883919-GA-AG c.1507_1508delinsCT p.S503L Missense 13/19 - 1
1-883926-T-A c.1501A>T p.N501Y Missense 13/19 - 25
1-883936-G-A c.1491C>T p.S497= Synonymous 13/19 - 1
1-883937-G-A c.1490C>T p.S497F Missense 13/19 - 2
1-883939-G-C c.1488C>G p.S496R Missense 13/19 - 1
1-883939-G-T c.1488C>A p.S496R Missense 13/19 - 1
1-883941-T-G c.1486A>C p.S496R Missense 13/19 - 1
1-883944-T-C c.1483A>G p.M495V Missense 13/19 - 2
1-883947-G-A c.1480C>T p.R494C Missense 13/19 - 1
1-883948-C-A c.1479G>T p.G493= Synonymous 13/19 - 1
1-883948-C-G c.1479G>C p.G493= Synonymous 13/19 - 1
1-883948-C-T c.1479G>A p.G493= Synonymous 13/19 - 1
1-883950-C-T c.1477G>A p.G493R Missense 13/19 - 1
1-883952-G-A c.1475C>T p.P492L Missense 13/19 - 2
1-883956-T-A c.1471A>T p.K491* Nonsense 13/19 - 1
1-883958-C-T c.1469G>A p.R490K Missense 13/19 - 1
1-883960-G-A c.1467C>T p.N489= Synonymous 13/19 - 2
1-883969-G-A c.1458C>T p.V486= Synonymous 13/19 - 2
1-883969-G-C c.1458C>G p.V486= Synonymous 13/19 - 1
1-883969-G-T c.1458C>A p.V486= Synonymous 13/19 - 1
1-883971-C-T c.1456G>A p.V486I Missense 13/19 - 1
1-883978-G-A c.1449C>T p.F483= Synonymous 13/19 - 1
1-883979-A-G c.1448T>C p.F483S Missense 13/19 - 2
1-883983-T-C c.1444A>G p.M482V Missense 13/19 - 1
1-884091-C-G c.1444-108G>C - IntronicSNV - 12/18 4
1-884091-C-CACCCTGGTCCCCCTGGTCCCTTTGGCCCTGCACCTGGCTGG c.1444-109_1444-108insCCAGCCAGGTGCAGGGCCAAAGGGACCAGGGGGACCAGGGT - IntronicInsertion - 12/18 1
1-884101-A-C c.1444-118T>G - IntronicSNV - 12/18 5
1-886050-ACAG-A c.1443+455_1443+457del - IntronicDeletion - 12/18 1
1-886384-G-A c.1443+123C>T - IntronicSNV - 12/18 1
1-886518-A-T c.1432T>A p.F478I Missense 12/19 - 1
1-886522-CAG-AAA c.1426_1428delinsTTT p.L476F Missense 12/19 - 1
1-886532-A-G c.1418T>C p.I473T Missense 12/19 - 1
1-886533-T-C c.1417A>G p.I473V Missense 12/19 - 1
1-886538-G-A c.1412C>T p.A471V Missense 12/19 - 1
1-886543-C-T c.1407G>A p.S469= Synonymous 12/19 - 1
1-886544-G-A c.1406C>T p.S469L Missense 12/19 - 2
1-886553-G-A c.1397C>T p.S466L Missense 12/19 - 2
1-886556-A-C c.1394T>G p.L465R Missense 12/19 - 1
1-886558-C-A c.1392G>T p.L464= Synonymous 12/19 - 1
1-886558-C-G c.1392G>C p.L464= Synonymous 12/19 - 1
1-886558-C-T c.1392G>A p.L464= Synonymous 12/19 - 1
1-886560-G-A c.1390C>T p.L464= Synonymous 12/19 - 1
1-886560-G-C c.1390C>G p.L464V Missense 12/19 - 1
1-886561-C-A c.1389G>T p.T463= Synonymous 12/19 - 1
1-886561-C-T c.1389G>A p.T463= Synonymous 12/19 - 1
1-886562-CG-C c.1388del p.T463Sfs*33 Frameshift 12/19 - 1
1-886562-G-A c.1388C>T p.T463M Missense 12/19 - 1
1-886569-C-A c.1381G>T p.A461S Missense 12/19 - 1
1-886571-C-A c.1379G>T p.R460L Missense 12/19 - 2
1-886572-G-A c.1378C>T p.R460C Missense 12/19 - 5
1-886573-G-A c.1377C>T p.I459= Synonymous 12/19 - 3
1-886586-C-T c.1364G>A p.R455Q Missense 12/19 - 2
1-886587-G-A c.1363C>T p.R455* Nonsense 12/19 - 2
1-886592-G-A c.1358C>T p.P453L Missense 12/19 - 1
1-886593-G-T c.1357C>A p.P453T Missense 12/19 - 1
1-886597-G-C c.1353C>G p.F451L Missense 12/19 - 1
1-886597-G-T c.1353C>A p.F451L Missense 12/19 - 1
1-886599-A-G c.1351T>C p.F451L Missense 12/19 - 1
1-886602-G-A c.1348C>T p.R450C Missense 12/19 - 5
1-886604-G-A c.1346C>T p.A449V Missense 12/19 - 1
1-886608-T-C c.1342A>G p.T448A Missense 12/19 - 1
1-886612-G-A c.1338C>T p.I446= Synonymous 12/19 - 3
1-886618-C-T c.1332G>A p.K444= Synonymous 12/19 - 1
1-886788-G-A c.1332-170C>T - IntronicSNV - 11/18 6
1-886817-C-T c.1332-199G>A - IntronicSNV - 11/18 6
1-886817-C-CATTTT c.1332-200_1332-199insAAAAT - IntronicInsertion - 11/18 2
1-887298-C-T c.1331+82G>A - IntronicSNV - 11/18 1
1-887380-T-C c.1331A>G p.K444R Missense 11/19 - 1
1-887381-T-C c.1330A>G p.K444E Missense 11/19 - 1
1-887381-T-G c.1330A>C p.K444Q Missense 11/19 - 1
1-887382-G-C c.1329C>G p.I443M Missense 11/19 - 1
1-887382-G-T c.1329C>A p.I443= Synonymous 11/19 - 1
1-887386-CA-AC c.1324_1325delinsGT p.C442V Missense 11/19 - 1
1-887399-C-T c.1312G>A p.V438I Missense 11/19 - 1
1-887408-G-A c.1303C>T p.L435F Missense 11/19 - 5
1-887411-G-A c.1300C>T p.P434S Missense 11/19 - 1
1-887413-TA-CG c.1297_1298delinsCG p.Y433R Missense 11/19 - 1
1-887413-T-C c.1298A>G p.Y433C Missense 11/19 - 1
1-887415-G-A c.1296C>T p.V432= Synonymous 11/19 - 1
1-887415-G-C c.1296C>G p.V432= Synonymous 11/19 - 1
1-887415-G-T c.1296C>A p.V432= Synonymous 11/19 - 1
1-887417-C-A c.1294G>T p.V432F Missense 11/19 - 1
1-887418-C-A c.1293G>T p.L431F Missense 11/19 - 1
1-887418-C-G c.1293G>C p.L431F Missense 11/19 - 1
1-887428-A-T c.1283T>A p.L428H Missense 11/19 - 1
1-887432-C-G c.1279G>C p.A427P Missense 11/19 - 1
1-887433-T-A c.1278A>T p.E426D Missense 11/19 - 1
1-887433-T-G c.1278A>C p.E426D Missense 11/19 - 1
1-887434-T-C c.1277A>G p.E426G Missense 11/19 - 1
1-887435-C-T c.1276G>A p.E426K Missense 11/19 - 1
1-887436-G-A c.1275C>T p.S425= Synonymous 11/19 - 3
1-887437-C-T c.1274G>A p.S425N Missense 11/19 - 1
1-887438-T-A c.1273A>T p.S425C Missense 11/19 - 4
1-887440-G-A c.1271C>T p.P424L Missense 11/19 - 1
1-887446-G-A c.1265C>T p.A422V Missense 11/19 - 3
1-887452-C-G c.1259G>C p.S420T Missense 11/19 - 1
1-887454-CAG-GAT c.1255_1257delinsATC p.L419I Missense 11/19 - 1
1-887454-C-G c.1257G>C p.L419= Synonymous 11/19 - 2
1-887456-G-C c.1255C>G p.L419V Missense 11/19 - 1
1-887462-G-A c.1249C>T p.R417W Missense 11/19 - 1
1-887469-C-A c.1242G>T p.L414= Synonymous 11/19 - 1
1-887469-C-G c.1242G>C p.L414= Synonymous 11/19 - 1
1-887469-C-T c.1242G>A p.L414= Synonymous 11/19 - 1
1-887471-G-A c.1240C>T p.L414= Synonymous 11/19 - 2
1-887472-G-C c.1239C>G p.F413L Missense 11/19 - 1
1-887475-G-A c.1236C>T p.L412= Synonymous 11/19 - 1
1-887475-G-C c.1236C>G p.L412= Synonymous 11/19 - 1
1-887475-G-T c.1236C>A p.L412= Synonymous 11/19 - 1
1-887483-G-A c.1228C>T p.H410Y Missense 11/19 - 1
1-887485-A-G c.1226T>C p.V409A Missense 11/19 - 1
1-887497-T-C c.1214A>G p.N405S Missense 11/19 - 2
1-887503-A-G c.1208T>C p.V403A Missense 11/19 - 1
1-887512-T-C c.1199A>G p.Y400C Missense 11/19 - 1
1-887560-A-C c.1192-41T>G - IntronicSNV - 10/18 9
1-887560-A-G c.1192-41T>C - IntronicSNV - 10/18 9
1-887677-G-A c.1191+115C>T - IntronicSNV - 10/18 1
1-887795-C-A c.1188G>T p.K396N Missense 10/19 - 1
1-887795-C-G c.1188G>C p.K396N Missense 10/19 - 1
1-887798-GCG-CCA c.1183_1185delinsTGG p.R395W Missense 10/19 - 1
1-887799-C-T c.1184G>A p.R395H Missense 10/19 - 1
1-887801-A-C c.1182T>G p.T394= Synonymous 10/19 - 12
1-887801-A-G c.1182T>C p.T394= Synonymous 10/19 - 19
1-887801-A-T c.1182T>A p.T394= Synonymous 10/19 - 19
1-887803-T-G c.1180A>C p.T394P Missense 10/19 - 1
1-887809-T-C c.1174A>G p.M392V Missense 10/19 - 1
1-887810-G-A c.1173C>T p.A391= Synonymous 10/19 - 2
1-887812-C-A c.1171G>T p.A391S Missense 10/19 - 2
1-887817-C-A c.1166G>T p.R389L Missense 10/19 - 1
1-887830-C-A c.1153G>T p.A385S Missense 10/19 - 1
1-887830-C-T c.1153G>A p.A385T Missense 10/19 - 1
1-887831-G-A c.1152C>T p.L384= Synonymous 10/19 - 1
1-887831-G-C c.1152C>G p.L384= Synonymous 10/19 - 1
1-887831-G-T c.1152C>A p.L384= Synonymous 10/19 - 1
1-887835-T-C c.1148A>G p.Q383R Missense 10/19 - 1
1-887835-TG-GC c.1147_1148delinsGC p.Q383A Missense 10/19 - 1
1-887838-CG-GC c.1144_1145delinsGC p.R382A Missense 10/19 - 1
1-887838-C-T c.1145G>A p.R382H Missense 10/19 - 2
1-887839-G-A c.1144C>T p.R382C Missense 10/19 - 2
1-887841-A-G c.1142T>C p.I381T Missense 10/19 - 1
1-887844-T-C c.1139A>G p.Y380C Missense 10/19 - 3
1-887853-G-A c.1130C>T p.A377V Missense 10/19 - 1
1-887854-C-T c.1129G>A p.A377T Missense 10/19 - 5
1-887855-G-A c.1128C>T p.H376= Synonymous 10/19 - 1
1-887869-C-T c.1114G>A p.V372M Missense 10/19 - 1
1-887880-AG-GC c.1102_1103delinsGC p.L368A Missense 10/19 - 1
1-887886-AG-GC c.1096_1097delinsGC p.L366A Missense 10/19 - 1
1-887889-AG-GA c.1093_1094delinsTC p.L365S Missense 10/19 - 1
1-887894-C-A c.1089G>T p.T363= Synonymous 10/19 - 1
1-887894-C-G c.1089G>C p.T363= Synonymous 10/19 - 1
1-887894-C-T c.1089G>A p.T363= Synonymous 10/19 - 1
1-887895-G-A c.1088C>T p.T363M Missense 10/19 - 1
1-887899-A-C c.1084T>G p.L362V Missense 10/19 - 2
1-887900-G-A c.1083C>T p.T361= Synonymous 10/19 - 1
1-887900-GG-CA c.1082_1083delinsTG p.T361M Missense 10/19 - 1
1-887901-G-A c.1082C>T p.T361I Missense 10/19 - 2
1-887903-C-T c.1080G>A p.W360* Nonsense 10/19 - 1
1-887910-A-G c.1073T>C p.M358T Missense 10/19 - 1
1-887912-G-A c.1071C>T p.F357= Synonymous 10/19 - 3
1-887916-CT-GC c.1066_1067delinsGC p.S356A Missense 10/19 - 1
1-887921-G-A c.1062C>T p.F354= Synonymous 10/19 - 1
1-887922-A-G c.1061T>C p.F354S Missense 10/19 - 1
1-887924-G-A c.1059C>T p.P353= Synonymous 10/19 - 1
1-887924-G-C c.1059C>G p.P353= Synonymous 10/19 - 1
1-887924-G-T c.1059C>A p.P353= Synonymous 10/19 - 1
1-887926-G-A c.1057C>T p.P353S Missense 10/19 - 2
1-887931-G-A c.1052C>T p.A351V Missense 10/19 - 1
1-887931-G-C c.1052C>G p.A351G Missense 10/19 - 1
1-887938-G-A c.1045C>T p.P349S Missense 10/19 - 1
1-887938-G-C c.1045C>G p.P349A Missense 10/19 - 2
1-887940-G-A c.1043C>T p.S348L Missense 10/19 - 3
1-887941-A-G c.1042T>C p.S348P Missense 10/19 - 1
1-887945-G-A c.1038C>T p.F346= Synonymous 10/19 - 1
1-887955-T-C c.1028A>G p.N343S Missense 10/19 - 3
1-887957-C-T c.1026G>A p.R342= Synonymous 10/19 - 2
1-887959-T-G c.1024A>C p.R342= Synonymous 10/19 - 1
1-887966-C-A c.1017G>T p.T339= Synonymous 10/19 - 2
1-887966-C-G c.1017G>C p.T339= Synonymous 10/19 - 2
1-887966-C-T c.1017G>A p.T339= Synonymous 10/19 - 2
1-887967-G-A c.1016C>T p.T339M Missense 10/19 - 2
1-887968-T-C c.1015A>G p.T339A Missense 10/19 - 1
1-887973-T-C c.1010A>G p.Y337C Missense 10/19 - 1
1-888205-G-A c.1003-225C>T - IntronicSNV - 9/18 1
1-888220-G-A c.1003-240C>T - IntronicSNV - 9/18 2
1-888558-G-A c.999C>T p.L333= Synonymous 9/19 - 1
1-888563-C-T c.994G>A p.V332I Missense 9/19 - 1
1-888564-G-A c.993C>T p.P331= Synonymous 9/19 - 4
1-888572-G-A c.985C>T p.L329F Missense 9/19 - 4
1-888573-G-A c.984C>T p.F328= Synonymous 9/19 - 2
1-888576-A-C c.981T>G p.T327= Synonymous 9/19 - 1
1-888576-A-G c.981T>C p.T327= Synonymous 9/19 - 1
1-888576-A-T c.981T>A p.T327= Synonymous 9/19 - 1
1-888582-C-T c.975G>A p.K325= Synonymous 9/19 - 1
1-888593-G-A c.964C>T p.R322W Missense 9/19 - 1
1-888594-G-A c.963C>T p.C321= Synonymous 9/19 - 1
1-888596-A-C c.961T>G p.C321G Missense 9/19 - 1
1-888600-T-C c.957A>G p.R319= Synonymous 9/19 - 1
1-888602-T-G c.955A>C p.R319= Synonymous 9/19 - 1
1-888602-T-C c.955A>G p.R319G Missense 9/19 - 1
1-888606-G-A c.951C>T p.L317= Synonymous 9/19 - 1
1-888619-G-C c.938C>G p.A313G Missense 9/19 - 2
1-888619-G-T c.938C>A p.A313D Missense 9/19 - 3
1-888620-C-A c.937G>T p.A313S Missense 9/19 - 1
1-888621-CA-AT c.935_936delinsAT p.L312H Missense 9/19 - 1
1-888621-C-T c.936G>A p.L312= Synonymous 9/19 - 1
1-888623-G-C c.934C>G p.L312V Missense 9/19 - 1
1-888626-C-T c.931G>A p.V311M Missense 9/19 - 1
1-888628-CG-TT c.928_929delinsAA p.R310K Missense 9/19 - 1
1-888628-C-T c.929G>A p.R310Q Missense 9/19 - 1
1-888627-C-A c.930G>T p.R310= Synonymous 9/19 - 1
1-888627-C-G c.930G>C p.R310= Synonymous 9/19 - 1
1-888627-C-T c.930G>A p.R310= Synonymous 9/19 - 1
1-888629-G-T c.928C>A p.R310= Synonymous 9/19 - 1
1-888630-C-A c.927G>T p.L309= Synonymous 9/19 - 1
1-888630-C-G c.927G>C p.L309= Synonymous 9/19 - 1
1-888630-C-T c.927G>A p.L309= Synonymous 9/19 - 1
1-888632-G-A c.925C>T p.L309= Synonymous 9/19 - 1
1-888635-A-C c.922T>G p.S308A Missense 9/19 - 1
1-888639-T-C c.918A>G p.E306= Synonymous 9/19 - 21
1-888639-T-G c.918A>C p.E306D Missense 9/19 - 4
1-888640-T-G c.917A>C p.E306A Missense 9/19 - 5
1-888643-C-T c.914G>A p.G305E Missense 9/19 - 1
1-888646-G-A c.911C>T p.T304I Missense 9/19 - 1
1-888654-T-C c.903A>G p.V301= Synonymous 9/19 - 2
1-888657-G-A c.900C>T p.I300= Synonymous 9/19 - 3
1-888659-T-C c.898A>G p.I300V Missense 9/19 - 31
1-888666-TCT-ACA c.889_891delinsTGT p.R297C Missense 9/19 - 1
1-888666-TCT-CCA c.889_891delinsTGG p.R297W Missense 9/19 - 1
1-889098-G-A c.888+64C>T - IntronicSNV - 8/18 1
1-889131-A-G c.888+31T>C - IntronicSNV - 8/18 3
1-889131-A-T c.888+31T>A - IntronicSNV - 8/18 2
1-889158-CGA-C c.888+3_888+4del - IntronicDeletion - 8/18 2
1-889158-GA-CC c.888+3_888+4delinsGG - IntronicBlockSubstitution - 8/18 2
1-889158-G-C c.888+4C>G - IntronicSNV - 8/18 11
1-889159-A-C c.888+3T>G - IntronicSNV - 8/18 12
1-889162-C-A c.888G>T p.K296N Missense 8/19 - 1
1-889162-C-G c.888G>C p.K296N Missense 8/19 - 1
1-889167-G-A c.883C>T p.L295F Missense 8/19 - 1
1-889169-AG-GC c.880_881delinsGC p.L294A Missense 8/19 - 1
1-889175-C-T c.875G>A p.R292H Missense 8/19 - 4
1-889177-G-A c.873C>T p.C291= Synonymous 8/19 - 1
1-889179-A-G c.871T>C p.C291R Missense 8/19 - 1
1-889181-TG-AC c.868_869delinsGT p.Q290V Missense 8/19 - 1
1-889185-T-A c.865A>T p.K289* Nonsense 8/19 - 1
1-889188-G-A c.862C>T p.P288S Missense 8/19 - 1
1-889193-GT-TC c.856_857delinsGA p.T286D Missense 8/19 - 1
1-889197-G-T c.853C>A p.L285M Missense 8/19 - 3
1-889200-A-C c.850T>G p.F284V Missense 8/19 - 1
1-889207-CAC-GAT c.841_843delinsATC p.V281I Missense 8/19 - 1
1-889212-G-C c.838C>G p.L280V Missense 8/19 - 1
1-889215-C-T c.835G>A p.V279M Missense 8/19 - 3
1-889216-G-A c.834C>T p.S278= Synonymous 8/19 - 1
1-889218-T-C c.832A>G p.S278G Missense 8/19 - 1
1-889226-C-T c.824G>A p.R275Q Missense 8/19 - 2
1-889225-C-A c.825G>T p.R275= Synonymous 8/19 - 1
1-889225-C-G c.825G>C p.R275= Synonymous 8/19 - 1
1-889225-C-T c.825G>A p.R275= Synonymous 8/19 - 1
1-889227-G-A c.823C>T p.R275W Missense 8/19 - 2
1-889227-G-T c.823C>A p.R275= Synonymous 8/19 - 1
1-889234-G-A c.816C>T p.A272= Synonymous 8/19 - 1
1-889237-C-A c.813G>T p.A271= Synonymous 8/19 - 2
1-889237-C-G c.813G>C p.A271= Synonymous 8/19 - 1
1-889237-C-T c.813G>A p.A271= Synonymous 8/19 - 4
1-889238-G-A c.812C>T p.A271V Missense 8/19 - 16
1-889238-G-C c.812C>G p.A271G Missense 8/19 - 3
1-889246-CGT-GTC c.802_804delinsGAC p.T268D Missense 8/19 - 2
1-889251-T-A c.799A>T p.T267S Missense 8/19 - 1
1-889251-T-C c.799A>G p.T267A Missense 8/19 - 1
1-889253-T-G c.797A>C p.E266A Missense 8/19 - 1
1-889256-G-A c.794C>T p.S265L Missense 8/19 - 1
1-889258-CAG-GAT c.790_792delinsATC p.L264I Missense 8/19 - 1
1-889261-A-G c.789T>C p.C263= Synonymous 8/19 - 1
1-889264-G-A c.786C>T p.S262= Synonymous 8/19 - 3
1-889264-G-T c.786C>A p.S262= Synonymous 8/19 - 1
1-889265-G-A c.785C>T p.S262F Missense 8/19 - 1
1-889269-C-T c.781G>A p.V261M Missense 8/19 - 1
1-889390-G-A c.771C>T p.A257= Synonymous 7/19 - 1
1-889390-G-C c.771C>G p.A257= Synonymous 7/19 - 1
1-889390-G-T c.771C>A p.A257= Synonymous 7/19 - 1
1-889398-C-A c.763G>T p.G255C Missense 7/19 - 1
1-889399-C-A c.762G>T p.L254= Synonymous 7/19 - 1
1-889399-C-G c.762G>C p.L254= Synonymous 7/19 - 1
1-889399-C-T c.762G>A p.L254= Synonymous 7/19 - 1
1-889401-G-A c.760C>T p.L254= Synonymous 7/19 - 1
1-889401-G-T c.760C>A p.L254M Missense 7/19 - 1
1-889403-T-A c.758A>T p.Y253F Missense 7/19 - 4
1-889412-AT-TG c.748_749delinsCA p.I250H Missense 7/19 - 1
1-889421-C-A c.740G>T p.R247L Missense 7/19 - 5
1-889421-C-T c.740G>A p.R247H Missense 7/19 - 2
1-889422-G-A c.739C>T p.R247C Missense 7/19 - 2
1-889423-AAG-CAT c.736_738delinsATG p.L246M Missense 7/19 - 1
1-889422-GA-G c.738del p.R247Vfs*39 Frameshift 7/19 - 1
1-889426-C-T c.735G>A p.K245= Synonymous 7/19 - 1
1-889432-C-A c.729G>T p.W243C Missense 7/19 - 1
1-889428-TC-T c.732del p.K245Sfs*41 Frameshift 7/19 - 1
1-889436-A-T c.725T>A p.L242H Missense 7/19 - 6
1-889438-C-T c.723G>A p.P241= Synonymous 7/19 - 1
1-889439-G-A c.722C>T p.P241L Missense 7/19 - 1
1-889444-G-A c.717C>T p.S239= Synonymous 7/19 - 2
1-889445-CT-AG c.715_716inv p.S239L Missense 7/19 - 1
1-889446-T-A c.715A>T p.S239C Missense 7/19 - 2
1-889447-GG-TT c.713_714delinsAA p.S238* Nonsense 7/19 - 1
1-889448-GA-AG c.712_713delinsCT p.S238L Missense 7/19 - 1
1-889448-GA-CG c.712_713delinsCG p.S238R Missense 7/19 - 1
1-889450-C-T c.711G>A p.P237= Synonymous 7/19 - 2
1-889451-G-A c.710C>T p.P237L Missense 7/19 - 1
1-889457-AG-GC c.703_704delinsGC p.L235A Missense 7/19 - 3
1-889457-CAG-C c.703_704del p.L235Afs*362 Frameshift 7/19 - 1
1-889460-A-AG c.700_701insC p.M234Tfs*364 SpliceAcceptorInsertion 7/19 - 1
1-889462-C-T c.699G>A p.R233= Synonymous 7/19 - 1
1-891304-T-G c.697A>C p.R233= Synonymous 6/19 - 1
1-889523-A-G c.699-61T>C - IntronicSNV - 6/18 1
1-889638-G-A c.699-176C>T - IntronicSNV - 6/18 7
1-889638-G-C c.699-176C>G - IntronicSNV - 6/18 7
1-889713-C-A c.699-251G>T - IntronicSNV - 6/18 6
1-889713-C-T c.699-251G>A - IntronicSNV - 6/18 6
1-890252-A-G c.699-790T>C - IntronicSNV - 6/18 1
1-890252-A-T c.699-790T>A - IntronicSNV - 6/18 1
1-891021-G-A c.698+282C>T - IntronicSNV - 6/18 2
1-891059-C-T c.698+244G>A - IntronicSNV - 6/18 1
1-891237-G-A c.698+66C>T - IntronicSNV - 6/18 1
1-891297-T-C c.698+6A>G - IntronicSNV - 6/18 2
1-891302-C-A c.698+1G>T - IntronicSNV - 6/18 1
1-891304-T-A c.697A>T p.R233W Missense 6/19 - 1
1-891305-G-A c.696C>T p.S232= Synonymous 6/19 - 1
1-891305-TG-T c.696del p.S232Rfs*54 Frameshift 6/19 - 1
1-891306-C-A c.695G>T p.S232I Missense 6/19 - 1
1-891307-T-C c.694A>G p.S232G Missense 6/19 - 1
1-891308-G-C c.693C>G p.S231R Missense 6/19 - 1
1-891308-G-T c.693C>A p.S231R Missense 6/19 - 1
1-891310-T-G c.691A>C p.S231R Missense 6/19 - 1
1-891312-T-G c.689A>C p.D230A Missense 6/19 - 1
1-891313-C-T c.688G>A p.D230N Missense 6/19 - 1
1-891315-T-G c.686A>C p.K229T Missense 6/19 - 1
1-891314-CT-C c.686del p.K229Rfs*57 Frameshift 6/19 - 1
1-891318-G-A c.683C>T p.A228V Missense 6/19 - 1
1-891321-A-C c.680T>G p.V227G Missense 6/19 - 3
1-891324-T-A c.677A>T p.K226M Missense 6/19 - 1
1-891326-TCC-GTT c.673_675delinsAAC p.G225N Missense 6/19 - 1
1-891327-C-T c.674G>A p.G225E Missense 6/19 - 2
1-891344-G-A c.657C>T p.L219= Synonymous 6/19 - 2
1-891351-C-T c.650G>A p.G217D Missense 6/19 - 1
1-891355-T-G c.646A>C p.I216L Missense 6/19 - 1
1-891359-G-A c.642C>T p.D214= Synonymous 6/19 - 1
1-891361-C-T c.640G>A p.D214N Missense 6/19 - 1
1-891366-A-G c.635T>C p.I212T Missense 6/19 - 1
1-891376-T-C c.625A>G p.T209A Missense 6/19 - 1
1-891380-C-A c.621G>T p.L207= Synonymous 6/19 - 1
1-891380-C-G c.621G>C p.L207= Synonymous 6/19 - 1
1-891380-C-T c.621G>A p.L207= Synonymous 6/19 - 1
1-891382-G-A c.619C>T p.L207= Synonymous 6/19 - 1
1-891383-AGC-CTT c.616_618delinsAAG p.A206K Missense 6/19 - 4
1-891387-TT-GC c.613_614delinsGC p.N205A Missense 6/19 - 1
1-891389-G-A c.612C>T p.F204= Synonymous 6/19 - 1
1-891393-G-A c.608C>T p.A203V Missense 6/19 - 1
1-891429-G-C c.608-36C>G - IntronicSNV - 5/18 1
1-891435-G-A c.607+40C>T - IntronicSNV - 5/18 1
1-891475-C-T c.607G>A p.A203T Missense 5/19 - 1
1-891476-A-C c.606T>G p.A202= Synonymous 5/19 - 1
1-891476-A-G c.606T>C p.A202= Synonymous 5/19 - 1
1-891476-A-T c.606T>A p.A202= Synonymous 5/19 - 1
1-891482-GTC-CAT c.598_600delinsATG p.D200M Missense 5/19 - 1
1-891483-T-C c.599A>G p.D200G Missense 5/19 - 1
1-891484-C-T c.598G>A p.D200N Missense 5/19 - 1
1-891485-C-A c.597G>T p.T199= Synonymous 5/19 - 1
1-891485-CG-GA c.596_597delinsTC p.T199I Missense 5/19 - 1
1-891486-G-A c.596C>T p.T199M Missense 5/19 - 1
1-891492-TG-GC c.589_590delinsGC p.Q197A Missense 5/19 - 2
1-891493-G-A c.589C>T p.Q197* Nonsense 5/19 - 6
1-891493-G-C c.589C>G p.Q197E Missense 5/19 - 1
1-891494-G-A c.588C>T p.F196= Synonymous 5/19 - 1
1-891499-T-C c.583A>G p.K195E Missense 5/19 - 2
1-891501-TT-GC c.580_581delinsGC p.N194A Missense 5/19 - 1
1-891504-G-A c.578C>T p.A193V Missense 5/19 - 3
1-891506-C-A c.576G>T p.E192D Missense 5/19 - 1
1-891506-C-G c.576G>C p.E192D Missense 5/19 - 3
1-891506-C-T c.576G>A p.E192= Synonymous 5/19 - 1
1-891509-A-C c.573T>G p.A191= Synonymous 5/19 - 1
1-891509-A-G c.573T>C p.A191= Synonymous 5/19 - 1
1-891509-A-T c.573T>A p.A191= Synonymous 5/19 - 1
1-891511-C-T c.571G>A p.A191T Missense 5/19 - 1
1-891523-C-T c.559G>A p.D187N Missense 5/19 - 2
1-891526-C-T c.556G>A p.G186R Missense 5/19 - 1
1-891528-CG-GC c.553_554delinsGC p.R185A Missense 5/19 - 1
1-891528-C-T c.554G>A p.R185Q Missense 5/19 - 1
1-891531-G-A c.551C>T p.T184I Missense 5/19 - 1
1-891534-G-A c.548C>T p.T183I Missense 5/19 - 3
1-891538-C-A c.544G>T p.A182S Missense 5/19 - 1
1-891546-GC-AG c.535_536delinsCT p.A179L Missense 5/19 - 1
1-891549-C-T c.533G>A p.R178Q Missense 5/19 - 3
1-891548-T-A c.534A>T p.R178= Synonymous 5/19 - 1
1-891548-T-C c.534A>G p.R178= Synonymous 5/19 - 1
1-891548-T-G c.534A>C p.R178= Synonymous 5/19 - 1
1-891550-G-T c.532C>A p.R178= Synonymous 5/19 - 1
1-891554-C-A c.528G>T p.A176= Synonymous 5/19 - 1
1-891554-C-G c.528G>C p.A176= Synonymous 5/19 - 1
1-891554-C-T c.528G>A p.A176= Synonymous 5/19 - 2
1-891555-G-A c.527C>T p.A176V Missense 5/19 - 1
1-891565-C-T c.517G>A p.V173M Missense 5/19 - 1
1-891567-T-A c.515A>T p.E172V Missense 5/19 - 1
1-891571-G-A c.511C>T p.H171Y Missense 5/19 - 1
1-891571-G-C c.511C>G p.H171D Missense 5/19 - 1
1-891576-AG-GC c.505_506delinsGC p.L169A Missense 5/19 - 1
1-891578-C-T c.504G>A p.K168= Synonymous 5/19 - 1
1-891580-T-C c.502A>G p.K168E Missense 5/19 - 1
1-891585-G-A c.497C>T p.T166I Missense 5/19 - 1
1-891593-T-C c.489A>G p.Q163= Synonymous 5/19 - 1
1-891685-C-T c.487-90G>A - IntronicSNV - 4/18 1
1-892276-T-G c.484A>C p.K162Q Missense 4/19 - 3
1-892279-C-T c.481G>A p.A161T Missense 4/19 - 1
1-892280-TGC-ACA c.478_480delinsTGT p.A160C Missense 4/19 - 1
1-892281-G-A c.479C>T p.A160V Missense 4/19 - 1
1-892283-CTG-AAA c.475_477delinsTTT p.Q159F Missense 4/19 - 1
1-892283-CTG-ACA c.475_477delinsTGT p.Q159C Missense 4/19 - 2
1-892283-CTG-ATA c.475_477delinsTAT p.Q159Y Missense 4/19 - 1
1-892283-CTG-GAT c.475_477delinsATC p.Q159I Missense 4/19 - 1
1-892283-CTG-GTC c.475_477delinsGAC p.Q159D Missense 4/19 - 1
1-892283-CTG-GTT c.475_477delinsAAC p.Q159N Missense 4/19 - 1
1-892284-T-A c.476A>T p.Q159L Missense 4/19 - 1
1-892284-T-C c.476A>G p.Q159R Missense 4/19 - 1
1-892284-T-G c.476A>C p.Q159P Missense 4/19 - 1
1-892284-TG-AC c.475_476delinsGT p.Q159V Missense 4/19 - 1
1-892284-TG-AT c.475_476delinsAT p.Q159M Missense 4/19 - 1
1-892284-TG-CA c.475_476inv p.Q159W Missense 4/19 - 1
1-892284-TG-CC c.475_476delinsGG p.Q159G Missense 4/19 - 1
1-892284-TG-GC c.475_476delinsGC p.Q159A Missense 4/19 - 1
1-892284-TG-GT c.475_476delinsAC p.Q159T Missense 4/19 - 1
1-892291-A-G c.469T>C p.W157R Missense 4/19 - 3
1-892291-A-T c.469T>A p.W157R Missense 4/19 - 2
1-892292-T-A c.468A>T p.R156S Missense 4/19 - 3
1-892292-T-G c.468A>C p.R156S Missense 4/19 - 2
1-892293-C-T c.467G>A p.R156K Missense 4/19 - 1
1-892295-CTC-GTT c.463_465delinsAAC p.E155N Missense 4/19 - 1
1-892296-T-C c.464A>G p.E155G Missense 4/19 - 2
1-892296-TC-CT c.463_464delinsAG p.E155R Missense 4/19 - 2
1-892298-AAC-CAT c.460_462delinsATG p.V154M Missense 4/19 - 1
1-892300-C-A c.460G>T p.V154F Missense 4/19 - 1
1-892302-A-G c.458T>C p.M153T Missense 4/19 - 1
1-892306-C-T c.454G>A p.A152T Missense 4/19 - 1
1-892309-C-T c.451G>A p.V151I Missense 4/19 - 2
1-892310-G-A c.450C>T p.T150= Synonymous 4/19 - 2
1-892310-G-C c.450C>G p.T150= Synonymous 4/19 - 2
1-892310-G-T c.450C>A p.T150= Synonymous 4/19 - 2
1-892312-T-C c.448A>G p.T150A Missense 4/19 - 2
1-892317-G-A c.443C>T p.P148L Missense 4/19 - 1
1-892318-G-A c.442C>T p.P148S Missense 4/19 - 2
1-892322-A-C c.438T>G p.S146= Synonymous 4/19 - 1
1-892323-G-A c.437C>T p.S146F Missense 4/19 - 1
1-892323-G-C c.437C>G p.S146C Missense 4/19 - 2
1-892324-A-C c.436T>G p.S146A Missense 4/19 - 1
1-892328-C-A c.432G>T p.K144N Missense 4/19 - 3
1-892328-C-G c.432G>C p.K144N Missense 4/19 - 4
1-892331-C-A c.429G>T p.K143N Missense 4/19 - 1
1-892331-C-G c.429G>C p.K143N Missense 4/19 - 1
1-892334-CC-GT c.425_426delinsAC p.G142D Missense 4/19 - 5
1-892337-C-A c.423G>T p.K141N Missense 4/19 - 1
1-892337-C-CA c.422_423insT p.K141Nfs*15 Frameshift 4/19 - 2
1-892340-C-A c.420G>T p.L140= Synonymous 4/19 - 1
1-892340-C-G c.420G>C p.L140= Synonymous 4/19 - 1
1-892340-C-T c.420G>A p.L140= Synonymous 4/19 - 1
1-892342-G-A c.418C>T p.L140= Synonymous 4/19 - 1
1-892341-A-G c.419T>C p.L140P Missense 4/19 - 1
1-892345-C-G c.415G>C p.G139R Missense 4/19 - 2
1-892345-C-T c.415G>A p.G139R Missense 4/19 - 2
1-892347-CT-GC c.412_413delinsGC p.R138A Missense 4/19 - 1
1-892349-G-C c.411C>G p.P137= Synonymous 4/19 - 1
1-892349-G-T c.411C>A p.P137= Synonymous 4/19 - 1
1-892350-G-C c.410C>G p.P137R Missense 4/19 - 1
1-892352-GAC-CAT c.406_408delinsATG p.V136M Missense 4/19 - 1
1-892355-T-C c.405A>G p.R135= Synonymous 4/19 - 1
1-892357-T-G c.403A>C p.R135= Synonymous 4/19 - 1
1-892360-C-A c.400G>T p.D134Y Missense 4/19 - 1
1-892360-C-T c.400G>A p.D134N Missense 4/19 - 1
1-892361-CC-GT c.398_399delinsAC p.G133D Missense 4/19 - 1
1-892362-C-G c.398G>C p.G133A Missense 4/19 - 1
1-892362-C-T c.398G>A p.G133E Missense 4/19 - 1
1-892366-C-A c.394G>T p.D132Y Missense 4/19 - 1
1-892376-C-A c.384G>T p.E128D Missense 4/19 - 1
1-892376-C-G c.384G>C p.E128D Missense 4/19 - 1
1-892378-C-G c.382G>C p.E128Q Missense 4/19 - 1
1-892380-G-A c.380C>T p.A127V Missense 4/19 - 2
1-892383-C-G c.377G>C p.G126A Missense 4/19 - 4
1-892387-C-T c.373G>A p.D125N Missense 4/19 - 1
1-892391-C-A c.369G>T p.E123D Missense 4/19 - 1
1-892392-TC-GA c.367_368inv p.E123S Missense 4/19 - 1
1-892392-TC-GT c.367_368delinsAC p.E123T Missense 4/19 - 3
1-892393-C-T c.367G>A p.E123K Missense 4/19 - 1
1-892395-TC-GT c.364_365delinsAC p.E122T Missense 4/19 - 1
1-892398-CT-AA c.361_362delinsTT p.S121F Missense 4/19 - 1
1-892399-T-A c.361A>T p.S121C Missense 4/19 - 11
1-892401-G-A c.359C>T p.A120V Missense 4/19 - 1
1-892405-C-T c.355G>A p.E119K Missense 4/19 - 1
1-892460-G-A c.354+19C>T - IntronicSNV - 3/18 1
1-892460-G-C c.354+19C>G - IntronicSNV - 3/18 2
1-892471-G-A c.354+8C>T - IntronicSNV - 3/18 2
1-892471-G-C c.354+8C>G - IntronicSNV - 3/18 1
1-892488-A-C c.345T>G p.D115E Missense 3/19 - 1
1-892488-A-T c.345T>A p.D115E Missense 3/19 - 1
1-892489-T-G c.344A>C p.D115A Missense 3/19 - 1
1-892490-C-CA c.342_343insT p.D115* Nonsense 3/19 - 1
1-892490-C-T c.343G>A p.D115N Missense 3/19 - 1
1-892491-T-A c.342A>T p.P114= Synonymous 3/19 - 1
1-892492-G-A c.341C>T p.P114L Missense 3/19 - 1
1-892495-A-G c.338T>C p.L113P Missense 3/19 - 1
1-892497-G-A c.336C>T p.S112= Synonymous 3/19 - 2
1-892498-G-A c.335C>T p.S112F Missense 3/19 - 3
1-892501-T-A c.332A>T p.H111L Missense 3/19 - 1
1-892501-T-C c.332A>G p.H111R Missense 3/19 - 1
1-892501-TG-AT c.331_332delinsAT p.H111I Missense 3/19 - 5
1-892503-GA-CC c.329_330delinsGG p.F110W Missense 3/19 - 1
1-892506-C-A c.327G>T p.P109= Synonymous 3/19 - 1
1-892506-C-G c.327G>C p.P109= Synonymous 3/19 - 1
1-892506-C-T c.327G>A p.P109= Synonymous 3/19 - 1
1-892508-GGCC-G c.323_325del p.G108_P109delinsA MultiAAMissense 3/19 - 1
1-892510-C-T c.323G>A p.G108E Missense 3/19 - 1
1-892513-T-G c.320A>C p.E107A Missense 3/19 - 5
1-892520-C-A c.313G>T p.E105* Nonsense 3/19 - 1
1-892520-C-T c.313G>A p.E105K Missense 3/19 - 3
1-892521-C-T c.312G>A p.E104= Synonymous 3/19 - 1
1-892523-C-G c.310G>C p.E104Q Missense 3/19 - 1
1-892525-G-A c.308C>T p.S103F Missense 3/19 - 3
1-892526-A-T c.307T>A p.S103T Missense 3/19 - 1
1-892528-C-G c.305G>C p.S102T Missense 3/19 - 1
1-892532-C-CA c.300_301insT p.D101* Nonsense 3/19 - 1
1-892532-C-T c.301G>A p.D101N Missense 3/19 - 3
1-892533-C-A c.300G>T p.S100= Synonymous 3/19 - 1
1-892534-G-A c.299C>T p.S100L Missense 3/19 - 1
1-892534-GA-CC c.298_299delinsGG p.S100G Missense 3/19 - 1
1-892534-G-C c.299C>G p.S100W Missense 3/19 - 1
1-892535-A-C c.298T>G p.S100A Missense 3/19 - 2
1-892535-A-G c.298T>C p.S100P Missense 3/19 - 6
1-892537-T-C c.296A>G p.D99G Missense 3/19 - 1
1-892538-C-A c.295G>T p.D99Y Missense 3/19 - 1
1-892538-C-T c.295G>A p.D99N Missense 3/19 - 1
1-892539-G-A c.294C>T p.S98= Synonymous 3/19 - 4
1-892547-T-G c.286A>C p.N96H Missense 3/19 - 1
1-892548-T-A c.285A>T p.L95= Synonymous 3/19 - 1
1-892548-T-C c.285A>G p.L95= Synonymous 3/19 - 1
1-892548-T-G c.285A>C p.L95= Synonymous 3/19 - 1
1-892550-G-A c.283C>T p.L95= Synonymous 3/19 - 1
1-892549-A-G c.284T>C p.L95P Missense 3/19 - 1
1-892551-C-A c.282G>T p.L94= Synonymous 3/19 - 1
1-892551-C-G c.282G>C p.L94= Synonymous 3/19 - 1
1-892551-C-T c.282G>A p.L94= Synonymous 3/19 - 2
1-892553-G-A c.280C>T p.L94= Synonymous 3/19 - 1
1-892552-AG-GC c.280_281delinsGC p.L94A Missense 3/19 - 1
1-892557-C-A c.276G>T p.Q92H Missense 3/19 - 1
1-892560-G-C c.273C>G p.D91E Missense 3/19 - 1
1-892560-G-T c.273C>A p.D91E Missense 3/19 - 1
1-892561-T-G c.272A>C p.D91A Missense 3/19 - 2
1-892563-A-C c.270T>G p.N90K Missense 3/19 - 1
1-892565-TCTC-T c.265_267del p.E89del InFrameDeletion 3/19 - 3
1-892569-C-T c.264G>A p.Q88= Synonymous 3/19 - 2
1-892575-G-A c.258C>T p.F86= Synonymous 3/19 - 3
1-892587-C-A c.246G>T p.E82D Missense 3/19 - 1
1-892587-C-G c.246G>C p.E82D Missense 3/19 - 1
1-892589-C-T c.244G>A p.E82K Missense 3/19 - 1
1-892591-G-A c.242C>T p.P81L Missense 3/19 - 1
1-892592-G-C c.241C>G p.P81A Missense 3/19 - 1
1-892592-G-T c.241C>A p.P81T Missense 3/19 - 1
1-892593-G-A c.240C>T p.D80= Synonymous 3/19 - 1
1-892594-T-G c.239A>C p.D80A Missense 3/19 - 7
1-892595-C-A c.238G>T p.D80Y Missense 3/19 - 1
1-892596-TCT-ATG c.235_237delinsCAT p.R79H Missense 3/19 - 1
1-892607-G-C c.226C>G p.L76V Missense 3/19 - 1
1-892609-C-T c.224G>A p.R75Q Missense 3/19 - 1
1-892611-AGA-CTC c.220_222delinsGAG p.S74E Missense 3/19 - 1
1-892612-G-C c.221C>G p.S74C Missense 3/19 - 1
1-892613-A-C c.220T>G p.S74A Missense 3/19 - 1
1-892613-A-G c.220T>C p.S74P Missense 3/19 - 1
1-892616-G-A c.217C>T p.L73F Missense 3/19 - 1
1-892623-TT-CA c.209_210delinsTG p.K70M Missense 3/19 - 1
1-892626-TGTG-T c.205_207del p.H69del InFrameDeletion 3/19 - 1
1-892627-T-C c.206A>G p.H69R Missense 3/19 - 1
1-892627-TG-CA c.205_206inv p.H69C Missense 3/19 - 1
1-892627-TG-GC c.205_206delinsGC p.H69A Missense 3/19 - 1
1-892628-G-T c.205C>A p.H69N Missense 3/19 - 1
1-892629-CTC-AAA c.202_204delinsTTT p.E68F Missense 3/19 - 2
1-892633-GA-TC c.199_200inv p.S67D Missense 3/19 - 1
1-892634-A-G c.199T>C p.S67P Missense 3/19 - 3
1-892635-G-A c.198C>T p.A66= Synonymous 3/19 - 2
1-892635-G-C c.198C>G p.A66= Synonymous 3/19 - 2
1-892635-G-T c.198C>A p.A66= Synonymous 3/19 - 2
1-892636-G-T c.197C>A p.A66D Missense 3/19 - 1
1-892638-ACG-CTT c.193_195delinsAAG p.R65K Missense 3/19 - 1
1-892641-G-A c.192C>T p.G64= Synonymous 3/19 - 3
1-892644-T-A c.189A>T p.K63N Missense 3/19 - 1
1-892644-T-C c.189A>G p.K63= Synonymous 3/19 - 1
1-892645-T-C c.188A>G p.K63R Missense 3/19 - 1
1-892648-C-T c.185G>A p.R62H Missense 3/19 - 4
1-892649-G-A c.184C>T p.R62C Missense 3/19 - 2
1-892650-CC-AT c.182_183delinsAT p.R61H Missense 3/19 - 1
1-892650-C-G c.183G>C p.R61= Synonymous 3/19 - 1
1-892745-G-A c.180-92C>T - IntronicSNV - 2/18 6
1-893280-G-A c.180-627C>T - IntronicSNV - 2/18 1
1-893719-G-A c.179+590C>T - IntronicSNV - 2/18 3
1-893719-G-C c.179+590C>G - IntronicSNV - 2/18 1
1-893719-G-T c.179+590C>A - IntronicSNV - 2/18 1
1-894026-C-A c.179+283G>T - IntronicSNV - 2/18 1
1-894223-G-A c.179+86C>T - IntronicSNV - 2/18 1
1-894309-CT-GC c.178_179delinsGC p.S60A Missense 2/19 - 1
1-894309-CT-TG c.178_179delinsCA p.S60H Missense 2/19 - 1
1-894311-G-A c.177C>T p.A59= Synonymous 2/19 - 2
1-894311-G-C c.177C>G p.A59= Synonymous 2/19 - 2
1-894311-G-T c.177C>A p.A59= Synonymous 2/19 - 2
1-894312-G-A c.176C>T p.A59V Missense 2/19 - 1
1-894312-GC-AA c.175_176delinsTT p.A59F Missense 2/19 - 1
1-894312-G-T c.176C>A p.A59D Missense 2/19 - 1
1-894313-C-T c.175G>A p.A59T Missense 2/19 - 1
1-894314-CG-AA c.173_174delinsTT p.S58F Missense 2/19 - 1
1-894314-CG-AC c.173_174delinsGT p.S58C Missense 2/19 - 1
1-894315-GA-TC c.172_173inv p.S58E Missense 2/19 - 1
1-894316-A-C c.172T>G p.S58A Missense 2/19 - 4
1-894320-G-A c.168C>T p.S56= Synonymous 2/19 - 1
1-894321-CT-GC c.166_167delinsGC p.S56A Missense 2/19 - 1
1-894326-GC-CT c.161_162delinsAG p.G54E Missense 2/19 - 2
1-894327-C-T c.161G>A p.G54D Missense 2/19 - 1
1-894328-C-A c.160G>T p.G54C Missense 2/19 - 2
1-894329-C-A c.159G>T p.P53= Synonymous 2/19 - 1
1-894329-C-G c.159G>C p.P53= Synonymous 2/19 - 1
1-894329-CGG-AAA c.157_159delinsTTT p.P53F Missense 2/19 - 1
1-894329-CGG-ACA c.157_159delinsTGT p.P53C Missense 2/19 - 1
1-894329-C-T c.159G>A p.P53= Synonymous 2/19 - 1
1-894330-G-A c.158C>T p.P53L Missense 2/19 - 3
1-894331-G-T c.157C>A p.P53T Missense 2/19 - 1
1-894335-A-C c.153T>G p.D51E Missense 2/19 - 2
1-894335-A-T c.153T>A p.D51E Missense 2/19 - 2
1-894337-C-G c.151G>C p.D51H Missense 2/19 - 1
1-894338-CGG-ACA c.148_150delinsTGT p.P50C Missense 2/19 - 2
1-894338-CGG-GTC c.148_150delinsGAC p.P50D Missense 2/19 - 1
1-894339-G-A c.149C>T p.P50L Missense 2/19 - 1
1-894339-GG-CC c.148_149inv p.P50G Missense 2/19 - 5
1-894340-G-A c.148C>T p.P50S Missense 2/19 - 2
1-894341-ACT-TCA c.145_147delinsTGA p.S49* Nonsense 2/19 - 1
1-894342-CT-GC c.145_146delinsGC p.S49A Missense 2/19 - 2
1-894343-T-A c.145A>T p.S49C Missense 2/19 - 1
1-894344-CCG-ACA c.142_144delinsTGT p.R48C Missense 2/19 - 1
1-894345-CG-GC c.142_143delinsGC p.R48A Missense 2/19 - 1
1-894347-G-A c.141C>T p.A47= Synonymous 2/19 - 1
1-894347-G-C c.141C>G p.A47= Synonymous 2/19 - 1
1-894347-G-T c.141C>A p.A47= Synonymous 2/19 - 1
1-894348-G-C c.140C>G p.A47G Missense 2/19 - 3
1-894348-GC-AA c.139_140delinsTT p.A47F Missense 2/19 - 2
1-894349-C-A c.139G>T p.A47S Missense 2/19 - 1
1-894350-AG-CT c.137_138inv p.A46E Missense 2/19 - 1
1-894351-GC-AA c.136_137delinsTT p.A46F Missense 2/19 - 1
1-894352-C-T c.136G>A p.A46T Missense 2/19 - 1
1-894353-C-G c.135G>C p.E45D Missense 2/19 - 1
1-894353-C-T c.135G>A p.E45= Synonymous 2/19 - 1
1-894353-CTC-ACA c.133_135delinsTGT p.E45C Missense 2/19 - 1
1-894355-C-G c.133G>C p.E45Q Missense 2/19 - 1
1-894355-C-T c.133G>A p.E45K Missense 2/19 - 1
1-894356-G-A c.132C>T p.R44= Synonymous 2/19 - 4
1-894356-G-C c.132C>G p.R44= Synonymous 2/19 - 4
1-894356-G-T c.132C>A p.R44= Synonymous 2/19 - 4
1-894357-C-T c.131G>A p.R44H Missense 2/19 - 1
1-894358-G-A c.130C>T p.R44C Missense 2/19 - 1
1-894358-G-T c.130C>A p.R44S Missense 2/19 - 4
1-894359-T-A c.129A>T p.A43= Synonymous 2/19 - 1
1-894359-T-C c.129A>G p.A43= Synonymous 2/19 - 1
1-894359-T-G c.129A>C p.A43= Synonymous 2/19 - 1
1-894359-TGC-ACA c.127_129delinsTGT p.A43C Missense 2/19 - 1
1-894360-G-C c.128C>G p.A43G Missense 2/19 - 3
1-894360-GC-AG c.127_128delinsCT p.A43L Missense 2/19 - 1
1-894360-G-T c.128C>A p.A43E Missense 2/19 - 1
1-894361-C-G c.127G>C p.A43P Missense 2/19 - 1
1-894362-T-A c.126A>T p.E42D Missense 2/19 - 1
1-894362-T-G c.126A>C p.E42D Missense 2/19 - 1
1-894364-C-T c.124G>A p.E42K Missense 2/19 - 3
1-894365-CCG-GCT c.121_123delinsAGC p.R41S Missense 2/19 - 1
1-894366-C-T c.122G>A p.R41Q Missense 2/19 - 1
1-894369-GT-TC c.118_119delinsGA p.T40E Missense 2/19 - 1
1-894371-C-A c.117G>T p.E39D Missense 2/19 - 1
1-894371-C-T c.117G>A p.E39= Synonymous 2/19 - 1
1-894371-CTC-ACA c.115_117delinsTGT p.E39C Missense 2/19 - 1
1-894373-C-T c.115G>A p.E39K Missense 2/19 - 2
1-894374-C-A c.114G>T p.A38= Synonymous 2/19 - 1
1-894374-C-G c.114G>C p.A38= Synonymous 2/19 - 1
1-894374-CGC-AAA c.112_114delinsTTT p.A38F Missense 2/19 - 2
1-894374-CGC-ACA c.112_114delinsTGT p.A38C Missense 2/19 - 2
1-894374-CG-GT c.113_114delinsAC p.A38D Missense 2/19 - 1
1-894374-C-T c.114G>A p.A38= Synonymous 2/19 - 1
1-894375-G-T c.113C>A p.A38E Missense 2/19 - 1
1-894376-C-A c.112G>T p.A38S Missense 2/19 - 1
1-894376-C-T c.112G>A p.A38T Missense 2/19 - 3
1-894378-T-A c.110A>T p.Q37L Missense 2/19 - 1
1-894381-G-A c.107C>T p.P36L Missense 2/19 - 1
1-894381-GG-CC c.106_107inv p.P36G Missense 2/19 - 1
1-894382-G-T c.106C>A p.P36T Missense 2/19 - 1
1-894384-GA-TC c.103_104inv p.S35D Missense 2/19 - 1
1-894384-G-C c.104C>G p.S35C Missense 2/19 - 5
1-894385-A-C c.103T>G p.S35A Missense 2/19 - 5
1-894386-A-G c.102T>C p.N34= Synonymous 2/19 - 1
1-894387-TT-GC c.100_101delinsGC p.N34A Missense 2/19 - 1
1-894389-TTC-AAA c.97_99delinsTTT p.E33F Missense 2/19 - 1
1-894393-G-A c.95C>T p.S32F Missense 2/19 - 1
1-894393-GA-TC c.94_95inv p.S32D Missense 2/19 - 4
1-894393-G-C c.95C>G p.S32C Missense 2/19 - 3
1-894394-A-C c.94T>G p.S32A Missense 2/19 - 7
1-894398-GGA-CTC c.88_90delinsGAG p.S30E Missense 2/19 - 1
1-894399-GA-CC c.88_89delinsGG p.S30G Missense 2/19 - 1
1-894399-GA-CG c.88_89delinsCG p.S30R Missense 2/19 - 1
1-894399-GA-TC c.88_89inv p.S30D Missense 2/19 - 2
1-894399-GA-TG c.88_89delinsCA p.S30H Missense 2/19 - 3
1-894399-G-C c.89C>G p.S30C Missense 2/19 - 3
1-894400-A-C c.88T>G p.S30A Missense 2/19 - 8
1-894401-T-C c.87A>G p.E29= Synonymous 2/19 - 1
1-894402-T-G c.86A>C p.E29A Missense 2/19 - 1
1-894403-C-T c.85G>A p.E29K Missense 2/19 - 2
1-894404-G-A c.84C>T p.S28= Synonymous 2/19 - 1
1-894404-GGA-CTC c.82_84delinsGAG p.S28E Missense 2/19 - 1
1-894405-G-A c.83C>T p.S28F Missense 2/19 - 1
1-894405-GA-AG c.82_83delinsCT p.S28L Missense 2/19 - 1
1-894405-GA-CC c.82_83delinsGG p.S28G Missense 2/19 - 1
1-894405-GA-TC c.82_83inv p.S28D Missense 2/19 - 4
1-894405-GA-TG c.82_83delinsCA p.S28H Missense 2/19 - 1
1-894405-G-C c.83C>G p.S28C Missense 2/19 - 3
1-894406-A-C c.82T>G p.S28A Missense 2/19 - 15
1-894406-A-T c.82T>A p.S28T Missense 2/19 - 2
1-894407-C-T c.81G>A p.E27= Synonymous 2/19 - 1
1-894410-GGA-CTC c.76_78delinsGAG p.S26E Missense 2/19 - 1
1-894411-G-A c.77C>T p.S26F Missense 2/19 - 1
1-894411-GA-CC c.76_77delinsGG p.S26G Missense 2/19 - 1
1-894411-GA-TC c.76_77inv p.S26D Missense 2/19 - 2
1-894411-G-C c.77C>G p.S26C Missense 2/19 - 2
1-894412-A-C c.76T>G p.S26A Missense 2/19 - 5
1-894413-G-C c.75C>G p.D25E Missense 2/19 - 1
1-894413-G-T c.75C>A p.D25E Missense 2/19 - 1
1-894414-T-G c.74A>C p.D25A Missense 2/19 - 1
1-894415-C-T c.73G>A p.D25N Missense 2/19 - 2
1-894422-CG-AC c.65_66delinsGT p.S22C Missense 2/19 - 6
1-894422-CGA-GTC c.64_66delinsGAC p.S22D Missense 2/19 - 5
1-894423-GA-TC c.64_65inv p.S22E Missense 2/19 - 2
1-894424-A-C c.64T>G p.S22A Missense 2/19 - 20
1-894425-A-C c.63T>G p.A21= Synonymous 2/19 - 3
1-894425-A-G c.63T>C p.A21= Synonymous 2/19 - 3
1-894425-A-T c.63T>A p.A21= Synonymous 2/19 - 3
1-894426-G-C c.62C>G p.A21G Missense 2/19 - 3
1-894426-GC-TT c.61_62delinsAA p.A21N Missense 2/19 - 1
1-894429-AG-TA c.58_59delinsTA p.L20* Nonsense 2/19 - 1
1-894430-G-GAA c.57_58insTT p.L20Ffs*2 Frameshift 2/19 - 1
1-894432-AA-GC c.55_56delinsGC p.F19A Missense 2/19 - 1
1-894432-A-G c.56T>C p.F19S Missense 2/19 - 1
1-894434-C-A c.54G>T p.E18D Missense 2/19 - 1
1-894434-C-G c.54G>C p.E18D Missense 2/19 - 1
1-894435-T-G c.53A>C p.E18A Missense 2/19 - 2
1-894436-C-T c.52G>A p.E18K Missense 2/19 - 3
1-894437-GTC-TTA c.49_51delinsTAA p.D17* Nonsense 2/19 - 1
1-894441-A-C c.47T>G p.V16G Missense 2/19 - 1
1-894446-C-A c.42G>T p.L14= Synonymous 2/19 - 1
1-894446-C-G c.42G>C p.L14= Synonymous 2/19 - 1
1-894446-C-T c.42G>A p.L14= Synonymous 2/19 - 1
1-894448-G-A c.40C>T p.L14= Synonymous 2/19 - 1
1-894449-C-A c.39G>T p.E13D Missense 2/19 - 1
1-894449-C-G c.39G>C p.E13D Missense 2/19 - 1
1-894449-C-T c.39G>A p.E13= Synonymous 2/19 - 1
1-894450-T-C c.38A>G p.E13G Missense 2/19 - 1
1-894450-T-G c.38A>C p.E13A Missense 2/19 - 1
1-894452-CGC-AAA c.34_36delinsTTT p.A12F Missense 2/19 - 2
1-894452-CG-GT c.35_36delinsAC p.A12D Missense 2/19 - 1
1-894453-GC-CA c.34_35delinsTG p.A12W Missense 2/19 - 1
1-894454-C-G c.34G>C p.A12P Missense 2/19 - 1
1-894458-G-A c.30C>T p.R10= Synonymous 2/19 - 1
1-894458-G-C c.30C>G p.R10= Synonymous 2/19 - 1
1-894458-GCG-CCA c.28_30delinsTGG p.R10W Missense 2/19 - 2
1-894458-G-T c.30C>A p.R10= Synonymous 2/19 - 1
1-894459-CG-AA c.28_29delinsTT p.R10F Missense 2/19 - 2
1-894459-CG-GC c.28_29delinsGC p.R10A Missense 2/19 - 1
1-894460-G-A c.28C>T p.R10C Missense 2/19 - 2
1-894460-G-T c.28C>A p.R10S Missense 2/19 - 1
1-894461-C-T c.27G>A p.R9= Synonymous 2/19 - 1
1-894596-T-G c.25A>C p.R9= Synonymous 1/19 - 1
1-894514-C-T c.27-53G>A - IntronicSNV - 1/18 1
1-894573-G-A c.26+22C>T - IntronicSNV - 1/18 24
1-894597-C-G c.24G>C p.K8N Missense 1/19 - 1
1-894600-G-A c.21C>T p.R7= Synonymous 1/19 - 3
1-894600-G-C c.21C>G p.R7= Synonymous 1/19 - 3
1-894600-G-T c.21C>A p.R7= Synonymous 1/19 - 3
1-894602-G-A c.19C>T p.R7C Missense 1/19 - 1
1-894603-G-A c.18C>T p.S6= Synonymous 1/19 - 2
1-894604-CT-AG c.16_17inv p.S6L Missense 1/19 - 1
1-894606-C-A c.15G>T p.G5= Synonymous 1/19 - 1
1-894606-C-G c.15G>C p.G5= Synonymous 1/19 - 1
1-894606-C-T c.15G>A p.G5= Synonymous 1/19 - 1
1-894607-C-T c.14G>A p.G5E Missense 1/19 - 1
1-894608-C-T c.13G>A p.G5R Missense 1/19 - 1
1-894609-C-A c.12G>T p.A4= Synonymous 1/19 - 1
1-894609-C-G c.12G>C p.A4= Synonymous 1/19 - 1
1-894609-C-T c.12G>A p.A4= Synonymous 1/19 - 1
1-894610-G-A c.11C>T p.A4V Missense 1/19 - 1
1-894612-A-C c.9T>G p.A3= Synonymous 1/19 - 2
1-894612-A-G c.9T>C p.A3= Synonymous 1/19 - 2
1-894612-A-T c.9T>A p.A3= Synonymous 1/19 - 2
1-894615-CTG-C c.5_6del p.A2Gfs*23 Frameshift 1/19 - 1
1-894615-T-A c.6A>T p.A2= Synonymous 1/19 - 5
1-894615-T-C c.6A>G p.A2= Synonymous 1/19 - 5
1-894615-T-G c.6A>C p.A2= Synonymous 1/19 - 5
1-894616-G-A c.5C>T p.A2V Missense 1/19 - 1
1-894618-C-T c.3G>A p.M1? Missense 1/19 - 1